Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies

Amandine Santini, Angelo Tognon, Anne-Claire Richard, Guillaume Velasco, Gilles Phan, Pauline Marzin, Fabien Maury, Angele May, Caroline Michot, Adela Chirita-Emandi, Jorge M. Saraiva, Maria Juliana Ballesta-Martinez, Stanislas Lyonnet, Ivona Sansović, Tahsin Stefan Barakat, Perrine Brunelle, Jamal Ghoumid, Xavier Le Guillou, Pauline Le Tanno, Marjolaine Willems, Martin Zenker, Ina Schanze, Stéphanie Moortgat, Bertrand Isidor, Alix Paulet, Alison Yeung, Jonathan Levy, Federica Ruscitti, Leticia Pias-Peleteiro, Marlène Rio, Thomas Courtin, Hamza Hadj Abdallah, Stéphanie Ducreux, Jean-Sérène Laloy, Paul Rollier, Anne-Marie Guerrot, Nicolas Chatron, Florence Demurger, Alice Goldenberg, Julian Delanne, Laurence Faivre, François Lecoquierre, Gaël Nicolas, Aurélie Coussement, Corinne Collet, Yvan Herenger, Matthieu Defrance, Valérie Cormier-Daire, Camille Charbonnier, Maud de Dieuleveult

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DOI
10.1186/s13073-026-01639-5
Published
2026-04-08
Container
Genome Medicine
Publisher
Springer Science and Business Media LLC
Open access
unknown

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BibTeX

@article{allodium:10.1186/s13073-026-01639-5,
  title = {Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies},
  author = {Amandine Santini and Angelo Tognon and Anne-Claire Richard and Guillaume Velasco and Gilles Phan and Pauline Marzin and Fabien Maury and Angele May and Caroline Michot and Adela Chirita-Emandi and Jorge M. Saraiva and Maria Juliana Ballesta-Martinez and Stanislas Lyonnet and Ivona Sansović and Tahsin Stefan Barakat and Perrine Brunelle and Jamal Ghoumid and Xavier Le Guillou and Pauline Le Tanno and Marjolaine Willems and Martin Zenker and Ina Schanze and Stéphanie Moortgat and Bertrand Isidor and Alix Paulet and Alison Yeung and Jonathan Levy and Federica Ruscitti and Leticia Pias-Peleteiro and Marlène Rio and Thomas Courtin and Hamza Hadj Abdallah and Stéphanie Ducreux and Jean-Sérène Laloy and Paul Rollier and Anne-Marie Guerrot and Nicolas Chatron and Florence Demurger and Alice Goldenberg and Julian Delanne and Laurence Faivre and François Lecoquierre and Gaël Nicolas and Aurélie Coussement and Corinne Collet and Yvan Herenger and Matthieu Defrance and Valérie Cormier-Daire and Camille Charbonnier and Maud de Dieuleveult},
  year = {2026},
  journal = {Genome Medicine},
  doi = {10.1186/s13073-026-01639-5},
  url = {https://doi.org/10.1186/s13073-026-01639-5}
}

RIS

TY  - JOUR
TI  - Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies
AU  - Amandine Santini
AU  - Angelo Tognon
AU  - Anne-Claire Richard
AU  - Guillaume Velasco
AU  - Gilles Phan
AU  - Pauline Marzin
AU  - Fabien Maury
AU  - Angele May
AU  - Caroline Michot
AU  - Adela Chirita-Emandi
AU  - Jorge M. Saraiva
AU  - Maria Juliana Ballesta-Martinez
AU  - Stanislas Lyonnet
AU  - Ivona Sansović
AU  - Tahsin Stefan Barakat
AU  - Perrine Brunelle
AU  - Jamal Ghoumid
AU  - Xavier Le Guillou
AU  - Pauline Le Tanno
AU  - Marjolaine Willems
AU  - Martin Zenker
AU  - Ina Schanze
AU  - Stéphanie Moortgat
AU  - Bertrand Isidor
AU  - Alix Paulet
AU  - Alison Yeung
AU  - Jonathan Levy
AU  - Federica Ruscitti
AU  - Leticia Pias-Peleteiro
AU  - Marlène Rio
AU  - Thomas Courtin
AU  - Hamza Hadj Abdallah
AU  - Stéphanie Ducreux
AU  - Jean-Sérène Laloy
AU  - Paul Rollier
AU  - Anne-Marie Guerrot
AU  - Nicolas Chatron
AU  - Florence Demurger
AU  - Alice Goldenberg
AU  - Julian Delanne
AU  - Laurence Faivre
AU  - François Lecoquierre
AU  - Gaël Nicolas
AU  - Aurélie Coussement
AU  - Corinne Collet
AU  - Yvan Herenger
AU  - Matthieu Defrance
AU  - Valérie Cormier-Daire
AU  - Camille Charbonnier
AU  - Maud de Dieuleveult
PY  - 2026
JO  - Genome Medicine
DO  - 10.1186/s13073-026-01639-5
UR  - https://doi.org/10.1186/s13073-026-01639-5
ER  -

APA

Santini, A., Tognon, A., Richard, A., Velasco, G., Phan, G., Marzin, P., Maury, F., May, A., Michot, C., Chirita-Emandi, A., Saraiva, J. M., Ballesta-Martinez, M. J., Lyonnet, S., Sansović, I., Barakat, T. S., Brunelle, P., Ghoumid, J., Guillou, X. L., Tanno, P. L., Willems, M., Zenker, M., Schanze, I., Moortgat, S., Isidor, B., Paulet, A., Yeung, A., Levy, J., Ruscitti, F., Pias-Peleteiro, L., Rio, M., Courtin, T., Abdallah, H. H., Ducreux, S., Laloy, J., Rollier, P., Guerrot, A., Chatron, N., Demurger, F., Goldenberg, A., Delanne, J., Faivre, L., Lecoquierre, F., Nicolas, G., Coussement, A., Collet, C., Herenger, Y., Defrance, M., Cormier-Daire, V., Charbonnier, C., & Dieuleveult, M. D. (2026). Identification of an episignature for CHD3-related Snijders Blok-Campeau syndrome reveals heterogeneity in the CHARGE syndrome episignature: towards a better characterisation of chromatinopathies. Genome Medicine. https://doi.org/10.1186/s13073-026-01639-5

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